Mutagenetix > Incidental Mutations

Incidental Mutation 'R4658:Kcnu1'

352602

Institutional Source

Beutler Lab

Gene Symbol

Kcnu1

Ensembl Gene

ENSMUSG00000031576

Gene Name

potassium channel, subfamily U, member 1

Synonyms

Kcnma3, Slo3

MMRRC Submission

041918-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4658 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25849623-25937939 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25937555 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 300 (C300Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098858] [ENSMUST00000120653]

Predicted Effect

probably damaging
Transcript: ENSMUST00000098858
AA Change: C1040Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: C1040Y

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
Pfam:Ion_trans	101	323	6.9e-21	PFAM
Pfam:Ion_trans_2	229	317	4.7e-12	PFAM
low complexity region	367	380	N/A	INTRINSIC
Pfam:BK_channel_a	462	557	1.2e-28	PFAM
low complexity region	670	689	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120653
AA Change: C300Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576
AA Change: C300Y

Domain	Start	End	E-Value	Type
PDB:4HPF\|B	1	332	1e-144	PDB

Meta Mutation Damage Score

0.4287

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

99% (88/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous male mutants are infertile with impaired sperm capacitation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,200,564	R778S	probably damaging	Het
Adam17	A	G	12: 21,332,160	C567R	probably damaging	Het
Ankrd28	G	A	14: 31,710,868	A758V	probably damaging	Het
Atrn	T	C	2: 130,933,429	Y151H	probably damaging	Het
B3gat3	A	G	19: 8,925,632	T118A	possibly damaging	Het
Camta1	A	G	4: 151,143,910	C822R	probably damaging	Het
Capn15	G	T	17: 25,960,768	Q807K	probably benign	Het
Clec12a	T	C	6: 129,354,530	Y145H	probably damaging	Het
Clk1	T	C	1: 58,412,987	I393V	probably benign	Het
Cpm	A	G	10: 117,668,051	I121V	probably benign	Het
Cux1	A	G	5: 136,250,594	I405T	possibly damaging	Het
Dnah3	A	G	7: 119,950,651	S3471P	probably damaging	Het
Dok6	A	G	18: 89,473,847		probably benign	Het
Eif4g1	A	T	16: 20,685,934	D1124V	possibly damaging	Het
Eif4g3	A	G	4: 138,206,132	E1756G	probably damaging	Het
Exo5	A	G	4: 120,922,551	V39A	probably benign	Het
Fmnl1	A	T	11: 103,197,694	I90F	probably damaging	Het
Fryl	G	T	5: 73,081,053	T1450K	probably damaging	Het
Gde1	T	C	7: 118,694,528	M91V	probably benign	Het
Gimd1	T	C	3: 132,644,582	I84T	probably damaging	Het
Gm13889	C	T	2: 93,957,108		probably benign	Het
Gm6445	T	A	19: 9,608,197		noncoding transcript	Het
Gm8113	T	C	14: 43,932,410	S483P	probably damaging	Het
Grik2	T	C	10: 49,523,792	I281V	possibly damaging	Het
Grik5	T	C	7: 25,060,727		probably benign	Het
Herc1	A	T	9: 66,479,491	I3796F	possibly damaging	Het
Hoxb13	A	T	11: 96,194,483	D14V	probably benign	Het
Hspg2	A	G	4: 137,533,730	Y1645C	probably damaging	Het
Igkv8-16	G	T	6: 70,386,778	R87S	probably damaging	Het
Ints1	A	T	5: 139,774,299	V140E	possibly damaging	Het
Kbtbd11	C	A	8: 15,028,917	D505E	possibly damaging	Het
Kmt2d	G	C	15: 98,852,529		probably benign	Het
Lats1	T	C	10: 7,702,729	V539A	probably benign	Het
Lipo5	C	T	19: 33,464,522	G200D	unknown	Het
Lmo7	C	A	14: 101,886,957	A284D	probably damaging	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Mcpt8	T	C	14: 56,083,828	M60V	possibly damaging	Het
Mdn1	A	G	4: 32,730,749		probably null	Het
Mphosph10	A	G	7: 64,388,974		probably null	Het
Muc5b	G	A	7: 141,841,398	S47N	unknown	Het
Notch3	A	T	17: 32,154,763	N490K	probably damaging	Het
Nr1d1	G	A	11: 98,771,912	S85L	possibly damaging	Het
Obscn	T	A	11: 59,054,288	R4635*	probably null	Het
Olfr121	G	T	17: 37,752,163	C103F	probably damaging	Het
Olfr1504	T	C	19: 13,887,548	I221V	probably benign	Het
Olfr275	T	C	4: 52,826,240	L281P	probably damaging	Het
Pappa	G	A	4: 65,314,796		probably null	Het
Pcdhb17	G	A	18: 37,486,599	G481S	probably damaging	Het
Pde1a	TCC	TC	2: 79,898,181		probably benign	Het
Phf3	A	T	1: 30,863,088	M48K	probably damaging	Het
Pira2	A	T	7: 3,840,934	V613E	probably damaging	Het
Poc1a	T	C	9: 106,349,688	S327P	possibly damaging	Het
Ptpn9	A	G	9: 57,020,037	H66R	probably benign	Het
Rabgap1	C	T	2: 37,487,549	R353*	probably null	Het
Rcc1l	G	T	5: 134,171,890	N134K	probably damaging	Het
Rims1	G	A	1: 22,427,543	T787I	probably damaging	Het
Rreb1	T	G	13: 37,948,801	S1651A	probably damaging	Het
Rsl1d1	T	C	16: 11,201,374	D100G	probably damaging	Het
Samd4	C	T	14: 47,064,246	R147C	probably damaging	Het
Serpinb6e	T	C	13: 33,841,316		probably benign	Het
Ska1	T	C	18: 74,197,040	I210V	probably benign	Het
Slc17a1	A	G	13: 23,878,560	I237V	probably benign	Het
Slc22a4	A	T	11: 53,997,510	S231T	probably benign	Het
Slc7a4	T	A	16: 17,575,933	M66L	probably damaging	Het
Snapc1	A	G	12: 73,983,868	T381A	possibly damaging	Het
St6galnac2	C	T	11: 116,684,525		probably benign	Het
Taar2	C	T	10: 23,941,503	L314F	probably benign	Het
Tmem74b	A	G	2: 151,706,641	D96G	probably damaging	Het
Tnfrsf17	T	C	16: 11,313,969	F6S	probably benign	Het
Tpp2	G	T	1: 43,954,710	G252W	probably damaging	Het
Trf	A	G	9: 103,223,608	F209L	probably damaging	Het
Ttn	T	C	2: 76,898,591		probably benign	Het
Uhmk1	A	T	1: 170,207,205	H311Q	probably damaging	Het
Unc13c	G	T	9: 73,932,826	Q248K	probably damaging	Het
Uqcrc2	A	G	7: 120,650,921	Y253C	probably damaging	Het
Vmn2r117	A	G	17: 23,478,416	F101L	probably benign	Het
Vmn2r43	T	C	7: 8,255,071	N381S	probably benign	Het
Zfp879	T	A	11: 50,833,197	Y271F	probably damaging	Het

Other mutations in Kcnu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Kcnu1	APN	8	25897856	missense	probably benign	0.00
IGL00580:Kcnu1	APN	8	25865663	missense	probably benign	0.04
IGL00675:Kcnu1	APN	8	25851849	missense	probably benign
IGL00928:Kcnu1	APN	8	25849735	missense	probably damaging	1.00
IGL01324:Kcnu1	APN	8	25849707	missense	probably benign	0.22
IGL01346:Kcnu1	APN	8	25934523	splice site	probably benign
IGL01361:Kcnu1	APN	8	25886768	missense	possibly damaging	0.78
IGL01651:Kcnu1	APN	8	25861095	missense	probably damaging	1.00
IGL01795:Kcnu1	APN	8	25913705	missense	probably damaging	1.00
IGL01800:Kcnu1	APN	8	25937500	missense	probably damaging	1.00
IGL01975:Kcnu1	APN	8	25934497	missense	probably benign	0.29
IGL02103:Kcnu1	APN	8	25905948	missense	possibly damaging	0.83
IGL02109:Kcnu1	APN	8	25937699	missense	possibly damaging	0.66
IGL02127:Kcnu1	APN	8	25892062	missense	probably damaging	1.00
IGL02170:Kcnu1	APN	8	25937560	missense	probably damaging	1.00
IGL02217:Kcnu1	APN	8	25858184	missense	probably damaging	1.00
IGL02385:Kcnu1	APN	8	25932270	missense	probably damaging	1.00
IGL02493:Kcnu1	APN	8	25937520	missense	possibly damaging	0.68
IGL02883:Kcnu1	APN	8	25849827	missense	probably benign
IGL02884:Kcnu1	APN	8	25921528	missense	probably damaging	1.00
IGL03022:Kcnu1	APN	8	25937586	missense	probably damaging	0.98
IGL03281:Kcnu1	APN	8	25892077	missense	probably null	1.00
IGL03345:Kcnu1	APN	8	25881293	splice site	probably benign
P0026:Kcnu1	UTSW	8	25892122	missense	probably damaging	1.00
PIT4677001:Kcnu1	UTSW	8	25905993	missense	probably benign
R0001:Kcnu1	UTSW	8	25859270	missense	probably damaging	1.00
R0419:Kcnu1	UTSW	8	25937618	missense	probably benign	0.13
R0518:Kcnu1	UTSW	8	25910888	missense	probably damaging	1.00
R0521:Kcnu1	UTSW	8	25910888	missense	probably damaging	1.00
R0581:Kcnu1	UTSW	8	25937501	missense	probably damaging	1.00
R0840:Kcnu1	UTSW	8	25913684	start codon destroyed	probably null	1.00
R1282:Kcnu1	UTSW	8	25905957	missense	probably benign	0.02
R1556:Kcnu1	UTSW	8	25861191	critical splice donor site	probably null
R1600:Kcnu1	UTSW	8	25849793	missense	probably damaging	1.00
R2011:Kcnu1	UTSW	8	25918442	missense	probably benign	0.03
R2035:Kcnu1	UTSW	8	25896693	missense	probably benign	0.35
R2082:Kcnu1	UTSW	8	25921549	missense	probably damaging	1.00
R2132:Kcnu1	UTSW	8	25851900	missense	probably damaging	0.99
R2415:Kcnu1	UTSW	8	25910878	missense	probably benign
R2513:Kcnu1	UTSW	8	25905966	missense	probably benign	0.00
R3712:Kcnu1	UTSW	8	25881420	missense	probably damaging	1.00
R3749:Kcnu1	UTSW	8	25886770	missense	probably null	0.01
R3840:Kcnu1	UTSW	8	25885352	missense	possibly damaging	0.95
R3874:Kcnu1	UTSW	8	25885317	missense	probably damaging	1.00
R4184:Kcnu1	UTSW	8	25862417	missense	probably damaging	1.00
R4576:Kcnu1	UTSW	8	25890020	missense	probably benign	0.06
R4667:Kcnu1	UTSW	8	25910921	missense	possibly damaging	0.69
R4791:Kcnu1	UTSW	8	25913752	missense	probably damaging	1.00
R4940:Kcnu1	UTSW	8	25897862	splice site	probably null
R5120:Kcnu1	UTSW	8	25934488	missense	possibly damaging	0.79
R5314:Kcnu1	UTSW	8	25862458	missense	probably damaging	0.97
R5712:Kcnu1	UTSW	8	25919650	missense	probably damaging	1.00
R5807:Kcnu1	UTSW	8	25849714	missense	possibly damaging	0.78
R6237:Kcnu1	UTSW	8	25932334	missense	probably benign
R6260:Kcnu1	UTSW	8	25851891	missense	probably damaging	1.00
R6360:Kcnu1	UTSW	8	25861180	missense	possibly damaging	0.73
R6612:Kcnu1	UTSW	8	25918316	missense	probably benign	0.10
R6708:Kcnu1	UTSW	8	25937711	missense	probably benign
R6765:Kcnu1	UTSW	8	25913645	missense	probably damaging	1.00
R6816:Kcnu1	UTSW	8	25937734	nonsense	probably null
R7030:Kcnu1	UTSW	8	25918463	missense	probably benign	0.00
R7202:Kcnu1	UTSW	8	25919581	splice site	probably null
R7208:Kcnu1	UTSW	8	25919637	nonsense	probably null
R7411:Kcnu1	UTSW	8	25892088	missense	probably damaging	1.00
R7520:Kcnu1	UTSW	8	25885340	missense	probably damaging	1.00
R7579:Kcnu1	UTSW	8	25896658	missense	probably damaging	1.00
R7968:Kcnu1	UTSW	8	25910870	missense	probably benign
R8305:Kcnu1	UTSW	8	25891990	missense	probably benign	0.21
R8443:Kcnu1	UTSW	8	25892064	missense	probably damaging	1.00
Z1177:Kcnu1	UTSW	8	25849764	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAGATGAAAGTCAACCCC -3'
(R):5'- TGTCCAAAGGATAGACTCGGG -3'

Sequencing Primer
(F):5'- TGAAAGTCAACCCCCTGGCG -3'
(R):5'- AGTGGTGGTGCTGAGACCAC -3'

Posted On

2015-10-08